Variant report

Variant	rs61648592
Chromosome Location	chr7:99689171-99689172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99687387..99689514-chr7:99773501..99775690,2	MCF-7	breast:
2	chr7:99686910..99689525-chr7:99745153..99746949,2	MCF-7	breast:
3	chr16:89785100..89787969-chr7:99688023..99690867,2	MCF-7	breast:
4	chr7:99688297..99690647-chr7:99759308..99762141,2	K562	blood:
5	chr7:99688501..99690139-chr7:99755819..99757970,3	MCF-7	breast:
6	chr1:145382559..145383300-chr7:99689073..99689935,2	Hela-S3	cervix:
7	chr7:99688943..99690919-chr7:99753060..99756388,3	K562	blood:

Variant related genes	Relation type
ENSG00000201558	Chromatin interaction
ENSG00000075399	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000213420	Chromatin interaction
ENSG00000158805	Chromatin interaction
ENSG00000188186	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000066923	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs57028043	1.00[AMR][1000 genomes]
rs57128906	1.00[AMR][1000 genomes]
rs57263854	1.00[AMR][1000 genomes]
rs57403878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58602971	1.00[AMR][1000 genomes]
rs58604532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58730747	1.00[AMR][1000 genomes]
rs59053341	1.00[AMR][1000 genomes]
rs59687495	1.00[AMR][1000 genomes]
rs59900957	1.00[AMR][1000 genomes]
rs60305755	1.00[AMR][1000 genomes]
rs60684015	1.00[AMR][1000 genomes]
rs60692359	1.00[AMR][1000 genomes]
rs61628190	1.00[AMR][1000 genomes]
rs61687460	1.00[AMR][1000 genomes]
rs61742750	1.00[AMR][1000 genomes]
rs73395957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397512	1.00[AMR][1000 genomes]
rs73403599	1.00[AMR][1000 genomes]
rs73405419	1.00[AMR][1000 genomes]
rs73405431	1.00[AMR][1000 genomes]
rs73405465	1.00[AMR][1000 genomes]
rs73405469	1.00[AMR][1000 genomes]
rs73405474	1.00[AMR][1000 genomes]
rs73405480	1.00[AMR][1000 genomes]
rs73405481	1.00[AMR][1000 genomes]
rs73409503	1.00[AMR][1000 genomes]
rs73409509	1.00[AMR][1000 genomes]
rs73409513	1.00[AMR][1000 genomes]
rs73409528	1.00[AMR][1000 genomes]
rs73409529	1.00[AMR][1000 genomes]
rs73409546	1.00[AMR][1000 genomes]
rs73409549	1.00[AMR][1000 genomes]
rs73409550	1.00[AMR][1000 genomes]
rs73409552	1.00[AMR][1000 genomes]
rs73411424	1.00[AMR][1000 genomes]
rs73411425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7796719	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99685800-99689800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:99687200-99690400	Weak transcription	Small Intestine	intestine
3	chr7:99687200-99693000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:99687400-99691200	Weak transcription	Psoas Muscle	Psoas
5	chr7:99687400-99697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:99687600-99689400	Genic enhancers	HUVEC	blood vessel
7	chr7:99687600-99690200	Strong transcription	Stomach Smooth Muscle	stomach
8	chr7:99687600-99690600	Weak transcription	Stomach Mucosa	stomach
9	chr7:99687600-99696000	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr7:99687600-99696600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:99687600-99696800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:99687800-99689200	Genic enhancers	GM12878-XiMat	blood
13	chr7:99687800-99689200	Genic enhancers	K562	blood
14	chr7:99687800-99689400	Genic enhancers	HSMM	muscle
15	chr7:99687800-99689600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:99687800-99691000	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:99687800-99691200	Strong transcription	Fetal Stomach	stomach
18	chr7:99687800-99691800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:99687800-99692000	Genic enhancers	NH-A	brain
20	chr7:99687800-99696000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:99687800-99696600	Strong transcription	Fetal Intestine Small	intestine
22	chr7:99688000-99689200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:99688000-99689600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:99688000-99689600	Strong transcription	Adipose Nuclei	Adipose
25	chr7:99688000-99689800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:99688000-99690000	Strong transcription	Fetal Heart	heart
27	chr7:99688000-99690400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr7:99688000-99690800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:99688000-99690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:99688000-99690800	Strong transcription	Placenta	Placenta
31	chr7:99688000-99690800	Strong transcription	Lung	lung
32	chr7:99688000-99691000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:99688000-99691000	Strong transcription	Rectal Smooth Muscle	rectum
34	chr7:99688000-99691200	Strong transcription	Liver	Liver
35	chr7:99688000-99691200	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr7:99688000-99691200	Strong transcription	Right Ventricle	heart
37	chr7:99688000-99691200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:99688000-99693000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:99688000-99695400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:99688000-99695600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:99688000-99695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:99688000-99696000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:99688000-99696200	Strong transcription	Fetal Intestine Large	intestine
44	chr7:99688000-99696400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:99688000-99696400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:99688000-99696400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:99688000-99696400	Strong transcription	Thymus	Thymus
48	chr7:99688000-99696600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr7:99688000-99696600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:99688000-99696600	Strong transcription	Primary hematopoietic stem cells	blood

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